SEC61A1

Sec61 translocon alpha 1 subunit
OMIM: 609213, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green SEC61A1 in Mendeliome Version 1.3513	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Immunodeficiency, common variable, 15, MIM# 620670 Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674
Green SEC61A1 in Renal Tubulointerstitial Disease Level 2: Renal and urinary tract disorders Version 1.7 Component of the following Super Panels: Kidneyome_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
Green SEC61A1 in Predominantly Antibody Deficiency Level 2: Immunological disorders Version 1.4 Component of the following Super Panels: Immunological disorders_SuperPanel	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert list Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Immunodeficiency, common variable, 15, MIM# 620670
Green SEC61A1 in Phagocyte Defects Level 2: Immunological disorders Version 1.44 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674 Immunodeficiency, common variable, 15, MIM# 620670